ADRENOLEUCODISTROFIA LIGADA AO X EM UMA CRIANÇA: RELATO DE CASO E REVISÃO DE LITERATURA

Adrenoleukodystrophy is a genetic disease linked to the X chromosome that affects almost exclusively males, with an incidence of 1:20,000 live births. The enzymatic error can cause a very variable clinical picture and several disturbances may occur. The symptomatology is quite nonspecific, which delays the identification of the pathology. The diagnosis is made by checking serum levels of very long-chain fatty acids, changes in central nervous system imaging and/or genetic testing. A cure is not guaranteed, but early diagnosis and bone marrow transplantation can lead to a relatively normal life. Methodology: Case study of a child with adrenoleukodystrophy, based on information gathered from medical records and complementary exams, organized in chronological order. Results: The child had a family history of leukodystrophy in a maternal uncle who died in childhood. Symptoms began at age six, initially with mood swings. After one year, he presented ataxic gait, significant reduction in visual acuity, language disorders and psychomotor involution. Neuroimaging exams detected white matter lesions in both cerebral hemispheres and there were clinical and laboratory signs of adrenal insufficiency. Measurement of very long chain fatty acids confirmed the diagnosis. Bone marrow transplantation was no longer viable due to the severity of the symptoms. Due to infectious complications, he died at seven years and eight months. Conclusions: Genetic counseling could have been useful in preventing or contributing to earlier detection and more assertive treatment.La adrenoleucodistrofia es una enfermedad genética ligada al cromosoma X que afecta casi exclusivamente al sexo masculino, con una incidencia de 1:20.000 nacidos vivos. El error enzimático puede causar un cuadro clínico muy variable y pueden ocurrir varias alteraciones. La sintomatología es bastante inespecífica. El diagnóstico se realiza comprobando los niveles séricos de ácidos grasos de cadena muy larga, los cambios en las imágenes del sistema nervioso central y/o las pruebas genéticas. La cura no está garantizada, pero el diagnóstico temprano y el trasplante de médula ósea pueden llevar a una vida relativamente normal. Metodología: Estudio de caso de un niño con adrenoleucodistrofia, a partir de información recabada de historias clínicas y exámenes complementarios, organizada en orden cronológico. Resultados: El niño tenía antecedentes familiares de leucodistrofia en un tío materno fallecido en la infancia. Los síntomas comenzaron a los seis años, inicialmente con cambios de humor. Al año presentó marcha atáxica, disminución significativa de la agudeza visual, trastornos del lenguaje e involución psicomotora. Los exámenes de neuroimagen detectaron lesiones de sustancia blanca en ambos hemisferios cerebrales y había signos clínicos y de laboratorio de insuficiencia suprarrenal. La medición de ácidos grasos de cadena muy larga confirmó el diagnóstico. El trasplante de médula ósea ya no era viable debido a la gravedad de los síntomas. Por complicaciones infecciosas, falleció a los siete años y ocho meses. Conclusiones: El consejo genético podría haber sido útil para prevenir o contribuir a una detección más temprana y un tratamiento más asertivo.Introdução: A adrenoleucodistrofia é uma doença genética ligada ao cromossomo X que afeta quase exclusivamente pessoas do sexo masculino, com incidência de 1:20.000 meninos nascidos vivos. O erro enzimático pode provocar um quadro clínico bastante variável podendo ocorrer diversos distúrbios. A sintomatologia é bastante inespecífica, o que retarda a identificação da patologia. O diagnóstico é realizado através da verificação dos níveis séricos de ácidos graxos de cadeia muito longa, alterações de imagem do sistema nervoso central e\ou testes genéticos. A cura não é garantida, porém o diagnóstico precoce e o transplante de medula podem possibilitar uma vida relativamente normal. Metodologia: Estudo de caso de uma criança com adrenoleucodistrofia, baseado em informações colhidas em prontuário médico e exames complementares, organizados em ordem cronológica. Resultados: A criança tinha antecedente familiar de leucodistrofia em tio materno falecido ainda na infância. Os sintomas começaram aos seis anos de idade, inicialmente com alterações do humor. Apresentava, após um ano, marcha atáxica, redução expressiva da acuidade visual, distúrbios de linguagem e involução psicomotora. Exames de neuroimagem detectaram lesões de substância branca em ambos os hemisférios cerebrais e havia sinais clínicos e laboratoriais de insuficiência adrenal. Dosagem de ácidos graxos de cadeia muito longa confirmaram o diagnóstico. O transplante de medula óssea já não era mais viável pela gravidade dos sintomas. Por intercorrências infecciosas, foi ao óbito aos sete anos e oito meses. Conclusões: O aconselhamento genético poderia ter sido útil na prevenção ou contribuir para uma detecção mais precoce e tratamento mais assertivo.Introdução: A adrenoleucodistrofia é uma doença genética ligada ao cromossomo X que afeta quase exclusivamente pessoas do sexo masculino, com incidência de 1:20.000 meninos nascidos vivos. O erro enzimático pode provocar um quadro clínico bastante variável podendo ocorrer diversos distúrbios. A sintomatologia é bastante inespecífica, o que retarda a identificação da patologia. O diagnóstico é realizado através da verificação dos níveis séricos de ácidos graxos de cadeia muito longa, alterações de imagem do sistema nervoso central e\ou testes genéticos. A cura não é garantida, porém o diagnóstico precoce e o transplante de medula podem possibilitar uma vida relativamente normal. Metodologia: Estudo de caso de uma criança com adrenoleucodistrofia, baseado em informações colhidas em prontuário médico e exames complementares, organizados em ordem cronológica. Resultados: A criança tinha antecedente familiar de leucodistrofia em tio materno falecido ainda na infância. Os sintomas começaram aos seis anos de idade, inicialmente com alterações do humor. Apresentava, após um ano, marcha atáxica, redução expressiva da acuidade visual, distúrbios de linguagem e involução psicomotora. Exames de neuroimagem detectaram lesões de substância branca em ambos os hemisférios cerebrais e havia sinais clínicos e laboratoriais de insuficiência adrenal. Dosagem de ácidos graxos de cadeia muito longa confirmaram o diagnóstico. O transplante de medula óssea já não era mais viável pela gravidade dos sintomas. Por intercorrências infecciosas, foi ao óbito aos sete anos e oito meses. Conclusões: O aconselhamento genético poderia ter sido útil na prevenção ou contribuir para uma detecção mais precoce e tratamento mais assertivo

Prevalência de infecções sexualmente transmissíveis em mulheres privadas de liberdade

The Infections Sexually Transmissible (IST), historically old, presents stay and they were added in the decade of 80, to the appearance of the epidemic of the aids and the hepatitis B. The private women of freedom constitute a vulnerable population to these offences and they are big the challenges for his/her enfrentamento. Due to that reality, he/she took place a descriptive research, of field, with quantitative approach, with the objective of verifying the prevalence of IST in private women of freedom, in Santarém, Pará. The sample is constituted of 65 handbooks. In agreement with the obtained results, 40% of the women live in stable union; 45% have incomplete fundamental teaching; 35% are between 18 and 24 years. As for the accomplishment of exams for the diagnosis of IST, 55% never accomplished and 36% present.O objetivo de verificar a prevalência de IST em mulheres privadas de liberdade, em Santarém, Pará. A amostra constitui-se de 65 prontuários. De acordo com os resultados obtidos, 40% das mulheres vivem em união estável; 45% têm ensino fundamental incompleto; 35% estão entre 18 e 24 anos.  Quanto à realização de exames para o diagnóstico de IST, 55% nunca realizou e 36% apresenta registro de um ou mais exames realizados. Desses, em 04 dos prontuários analisados haviam registros do diagnóstico de IST: 2 por sífilis, 1 por gonorreia e 1 por HIV. Os dados revelam que a prevalência de IST entre mulheres privadas de liberdade em Santarém, Pará é relevante e deve ser tratada com atenção e cautela, ressaltando que desenvolver ações preventivas, para identificação do diagnóstico e tratamento de forma planejada e integrada é essencial no contexto do sistema penitenciário brasileiro

Mortality and pulmonary complications in patients undergoing surgery with perioperative SARS-CoV-2 infection: an international cohort study

Background: The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on postoperative recovery needs to be understood to inform clinical decision making during and after the COVID-19 pandemic. This study reports 30-day mortality and pulmonary complication rates in patients with perioperative SARS-CoV-2 infection. Methods: This international, multicentre, cohort study at 235 hospitals in 24 countries included all patients undergoing surgery who had SARS-CoV-2 infection confirmed within 7 days before or 30 days after surgery. The primary outcome measure was 30-day postoperative mortality and was assessed in all enrolled patients. The main secondary outcome measure was pulmonary complications, defined as pneumonia, acute respiratory distress syndrome, or unexpected postoperative ventilation. Findings: This analysis includes 1128 patients who had surgery between Jan 1 and March 31, 2020, of whom 835 (74·0%) had emergency surgery and 280 (24·8%) had elective surgery. SARS-CoV-2 infection was confirmed preoperatively in 294 (26·1%) patients. 30-day mortality was 23·8% (268 of 1128). Pulmonary complications occurred in 577 (51·2%) of 1128 patients; 30-day mortality in these patients was 38·0% (219 of 577), accounting for 81·7% (219 of 268) of all deaths. In adjusted analyses, 30-day mortality was associated with male sex (odds ratio 1·75 [95% CI 1·28–2·40], p\textless0·0001), age 70 years or older versus younger than 70 years (2·30 [1·65–3·22], p\textless0·0001), American Society of Anesthesiologists grades 3–5 versus grades 1–2 (2·35 [1·57–3·53], p\textless0·0001), malignant versus benign or obstetric diagnosis (1·55 [1·01–2·39], p=0·046), emergency versus elective surgery (1·67 [1·06–2·63], p=0·026), and major versus minor surgery (1·52 [1·01–2·31], p=0·047). Interpretation: Postoperative pulmonary complications occur in half of patients with perioperative SARS-CoV-2 infection and are associated with high mortality. Thresholds for surgery during the COVID-19 pandemic should be higher than during normal practice, particularly in men aged 70 years and older. Consideration should be given for postponing non-urgent procedures and promoting non-operative treatment to delay or avoid the need for surgery. Funding: National Institute for Health Research (NIHR), Association of Coloproctology of Great Britain and Ireland, Bowel and Cancer Research, Bowel Disease Research Foundation, Association of Upper Gastrointestinal Surgeons, British Association of Surgical Oncology, British Gynaecological Cancer Society, European Society of Coloproctology, NIHR Academy, Sarcoma UK, Vascular Society for Great Britain and Ireland, and Yorkshire Cancer Research

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Correction to: Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

The original version of this article unfortunately contained a mistake

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Aspectos técnicos do implante de eletrodo para estimulação ventricular esquerda através do seio coronariano, com a utilização de anatomia radiológica e eletrograma intracavitário, na terapia de ressincronização cardíaca Technical aspects of lead implantation for left ventricle pacing through the coronary sinus, using anatomic radiology and intracavitary electrography in the cardiac resynchronization therapy

OBJETIVO: Apresentar a experiência de 157 implantes utilizando uma técnica simplificada para cateterização do seio coronariano, baseada no eletrograma intracavitário e anatomia radiológica, demonstrando o porcentual de sucesso e tempo total de utilização de radioscopia. MÉTODO: De outubro de 2001 a fevereiro de 2005, foram realizados 157 implantes de marcapasso biventricular em pacientes previamente selecionados, utilizando-se anatomia radiológica e observação de eletrograma intracavitário, demonstrando a taxa de sucesso, complicações e tempo total de utilização de radioscopia. RESULTADOS: O implante do sistema, utilizando-se a estimulação do ventrículo esquerdo via seio coronariano, não foi possível em onze procedimentos. Em 20 pacientes foram observadas dificuldades na canulação do óstio coronário e em 39 pacientes observou-se dificuldade de progressão do eletrodo através do seio coronário. O tempo médio de utilização de radioscopia foi 18,27 &plusmn; 15,46 min. CONCLUSÃO: A técnica de implante, proposta pelo autor, utilizando o eletrograma intracavitário e anatomia radiológica, demonstrou ser segura e eficaz para canulação do óstio do seio coronário, necessitando de reduzidos tempos de radioscopia.<br>OBJECTIVE: To present the experience of 157 implantations using a simplified technique for coronary sinus catheterization, based on the atrial component of the intracavitary electrogram and radiological anatomy, showing the success rate and total time of radioscopy use. METHOD: From October 2001 to February 2005, 157 biventricular pacemaker implantations were performed in previously selected patients, using radiological anatomy and observation of the intracavitary electrogram, focusing on the atrial component. Here we show the success rate, complications and total time of radioscopy use. RESULTS: The implantation of the system employing left ventricular pacing via the coronary sinus was not possible in 11 patients. Difficulties in cannulation of the coronary ostium were felt in 20 patients and difficulties of lead advancement through the coronary sinus existed in 39 patients. The mean time of radioscopy use was 18.27 &plusmn; 15.46 minutes. CONCLUSION: The implantation technique, proposed by the author, using the atrial component morphology of the intracavitary electrogram and radiological anatomy proved to be safe and effective for the cannulation of the coronary sinus ostium requiring shorter radioscopy times